Variant report

Variant	rs56295979
Chromosome Location	chr11:85861304-85861305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:85861207-85863137	K562	blood:	n/a	chr11:85862582-85862591 chr11:85862579-85862595 chr11:85863030-85863040 chr11:85862579-85862595
2	IRF1	chr11:85860764-85861426	K562	blood:	n/a	chr11:85861132-85861145 chr11:85861132-85861146 chr11:85860909-85860925 chr11:85861320-85861329

No.	Distal block	Cell Line	Cell type
1	chr11:85860959..85862805-chr11:85920748..85923597,2	K562	blood:
2	chr11:85859696..85863993-chr11:85872249..85875647,5	K562	blood:
3	chr11:85846668..85849486-chr11:85860309..85862549,2	K562	blood:
4	chr11:85773252..85777138-chr11:85860597..85863727,3	K562	blood:
5	chr11:85860013..85862994-chr11:85864825..85867094,3	MCF-7	breast:
6	chr11:85859821..85862459-chr11:85922097..85923862,2	K562	blood:
7	chr11:85779872..85782905-chr11:85861004..85863950,3	K562	blood:
8	chr11:85844772..85849892-chr11:85856973..85861809,6	K562	blood:
9	chr11:85779554..85782905-chr11:85860304..85865248,6	K562	blood:

Variant related genes	Relation type
RNU6-560P	TF binding region
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10501610	0.94[EUR][1000 genomes]
rs56157503	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72962020	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85846400-85862200	Weak transcription	Psoas Muscle	Psoas
2	chr11:85848000-85861600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:85850400-85862600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:85852800-85862200	Weak transcription	Right Atrium	heart
5	chr11:85854400-85862800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:85854800-85862600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:85855000-85861800	Weak transcription	Adipose Nuclei	Adipose
8	chr11:85855000-85862000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:85855800-85862200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:85856000-85861800	Weak transcription	GM12878-XiMat	blood
11	chr11:85856200-85862200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:85856600-85862000	Weak transcription	Fetal Kidney	kidney
13	chr11:85857000-85863600	Weak transcription	Stomach Mucosa	stomach
14	chr11:85857200-85862200	Weak transcription	A549	lung
15	chr11:85857400-85861400	Weak transcription	Liver	Liver
16	chr11:85857400-85861800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:85858000-85862200	Enhancers	Brain Hippocampus Middle	brain
18	chr11:85858200-85862400	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:85858400-85862000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:85858400-85862200	Weak transcription	Pancreas	Pancrea
21	chr11:85858400-85862400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:85858600-85861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:85859200-85861600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:85859800-85862000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:85859800-85862000	Weak transcription	Fetal Intestine Small	intestine
26	chr11:85859800-85862200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:85859800-85862400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:85860000-85861800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:85860000-85861800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:85860000-85861800	Enhancers	K562	blood
31	chr11:85860000-85862200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:85860000-85862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:85860000-85862600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:85860000-85862600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:85860000-85862600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:85860000-85863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:85860200-85862400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:85860400-85861400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:85860400-85862000	Weak transcription	Placenta	Placenta
40	chr11:85860400-85862000	Weak transcription	Left Ventricle	heart
41	chr11:85860400-85862400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:85860400-85862800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:85860600-85861800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:85860600-85862200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:85860600-85862800	Enhancers	Osteobl	bone
46	chr11:85861000-85862400	Enhancers	Brain Anterior Caudate	brain
47	chr11:85861000-85863800	Enhancers	Ovary	ovary
48	chr11:85861000-85864600	Enhancers	Fetal Lung	lung
49	chr11:85861200-85861400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:85861200-85862000	Enhancers	NHEK	skin

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